multiple mitochondrial dysfunctions syndrome 5

A multiple mitochondrial dysfunctions syndrome that is characterized by progressive neurologic deterioration beginning in early infancy, with affected individuals having no psychomotor development and early-onset seizures with neurologic decline and spasticity

A multiple mitochondrial dysfunctions syndrome that is characterized by progressive neurologic deterioration beginning in early infancy, with affected individuals having no psychomotor development and early-onset seizures with neurologic decline and spasticity, and has_material_basis_in autosomal recessive inheritance of homozygous mutation in the iron-sulfur cluster assembly 1 gene on chromosome 9q21.

Signs and symptoms

• Feeding difficulties
• Seizure
• Global developmental delay
• Ventriculomegaly
• Pachygyria
• Leukodystrophy
• Spasticity
• Hyperreflexia
• Elevated circulating creatine kinase activity
• Strabismus